Variant (rsID / SNP)

rs63750759

rs63750759 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCC6. Location: chromosome 16, position 16,248,831. Clinical significance in the table: Pathogenic.

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Reference-table entries

ABCC6Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 16:16248831
Cytoband: 16p13.11
HGVS: NM_001171.6(ABCC6):c.3940C>T (p.Arg1314Trp)
Allele change: Silent

Associated conditions / phenotypes

Pseudoxanthoma elasticum|Arterial calcification, generalized, of infancy, 2|Pseudoxanthoma elasticum|Pseudoxanthoma elasticum, forme fruste|Arterial calcification, generalized, of infancy, 2

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.